PTPRO Chromosome 12

Protein tyrosine phosphatase receptor type O
13 variants 1 Drug Response 12 Health Risk

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What This Gene Does
This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]
Gene Info
Gene Group
"Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type"
Locus Type
gene with protein product
Location
12p12.3
Ensembl
ENSG00000151490
Associated Conditions (4)
Corticosteroids response
PTPRO-related disorder
Nephrotic syndrome
type 6
Key Variants
All Variants (13)
RSID Category Clinical Significance Conditions
RS2135644233 Drug Response drug response Corticosteroids response, Corticosteroids response
RS150159022 Health Risk Conflicting classifications of pathogenicity PTPRO-related disorder, PTPRO-related disorder
RS528784695 Health Risk Conflicting classifications of pathogenicity Corticosteroids response, Nephrotic syndrome, type 6
RS564473574 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 6, Nephrotic syndrome
RS755074605 Health Risk Conflicting classifications of pathogenicity PTPRO-related disorder, Nephrotic syndrome, type 6
RS756776270 Health Risk Conflicting classifications of pathogenicity PTPRO-related disorder, Nephrotic syndrome, type 6
RS770704400 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 6, Nephrotic syndrome
RS1943381499 Health Risk Likely pathogenic
RS2135595547 Health Risk Likely pathogenic
RS1591732280 Health Risk Pathogenic Nephrotic syndrome, type 6, Nephrotic syndrome
RS1591750243 Health Risk Pathogenic Nephrotic syndrome, type 6, Nephrotic syndrome
RS2539945228 Health Risk Pathogenic
RS2539990210 Health Risk Pathogenic
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